Li J - Search Results

1

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, Liang C, Morales-Rosado JA, Cohen ASA, Hughes SS, Sullivan BR, Waddell V, van den Boogaard MH, van Jaarsveld RH, van Binsbergen E, van Gassen KL, Wang T, Hiatt SM, Amaral MD, Kelley WV, Zhao J, Feng W, Ren C, Yu Y, Boczek NJ, Ferber MJ, Lahner C, Elliott S, Ruan Y, Mignot C, Keren B, Xie H, Wang X, Popp B, Zweier C, Piard J, Coubes C, Mau-Them FT, Safraou H, Innes AM, Gauthier J, Michaud JL, Koboldt DC, Sylvie O, Willems M, Tan WH, Cogne B, Rieubland C, Braun D, McLean SD, Platzer K, Zacher P, Oppermann H, Evenepoel L, Blanc P, El Khattabi L, Haque N, Dsouza NR, Zimmermann MT, Urrutia R, Klee EW, Shen Y, Du H, Rappaport L, Liu CM, Chen X. Gong M, et al. Among authors: li j, li q. Am J Hum Genet. 2024 Nov 7;111(11):2392-2410. doi: 10.1016/j.ajhg.2024.09.006. Epub 2024 Oct 16. Am J Hum Genet. 2024. PMID: 39419027 Free PMC article.

2

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.

Li J, Zhang C, Tian X, Zhou B, Chen X, Wang Y, Hao S, Hui L, Meng Z. Li J, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2304. doi: 10.1002/mgg3.2304. Epub 2023 Dec 12. Mol Genet Genomic Med. 2024. PMID: 38087819 Free PMC article. Review.

3

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.

Wu XH, Lin SZ, Liu ZX, Qi YF, Wang WQ, Li JY, Chen QD, Yang LL. Wu XH, et al. Medicine (Baltimore). 2023 May 12;102(19):e33744. doi: 10.1097/MD.0000000000033744. Medicine (Baltimore). 2023. PMID: 37171308 Free PMC article.

4

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report.

Lin SZ, Feng JH, Sun LP, Ma HW, Wang WQ, Li JY. Lin SZ, et al. World J Clin Cases. 2022 Feb 26;10(6):1889-1895. doi: 10.12998/wjcc.v10.i6.1889. World J Clin Cases. 2022. PMID: 35317131 Free PMC article.

5

Aicardi-Goutières syndrome type 7 in a Chinese child: A case report.

Lin SZ, Yang JJ, Xie TL, Li JY, Ma JQ, Wu S, Wang N, Wang YJ. Lin SZ, et al. World J Clin Cases. 2023 Apr 16;11(11):2452-2456. doi: 10.12998/wjcc.v11.i11.2452. World J Clin Cases. 2023. PMID: 37123312 Free PMC article.

6

Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report.

Feng J, Lin S, Wang W, Chen Q, Wang W, Li J, Wang X. Feng J, et al. Among authors: li j. Medicine (Baltimore). 2023 Apr 25;102(17):e33587. doi: 10.1097/MD.0000000000033587. Medicine (Baltimore). 2023. PMID: 37115071 Free PMC article.

7

Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report.

Qi YF, Ma X, Lin SZ, Wang WQ, Li JY, Chen QD, Liu L. Qi YF, et al. Medicine (Baltimore). 2023 Dec 22;102(51):e36357. doi: 10.1097/MD.0000000000036357. Medicine (Baltimore). 2023. PMID: 38134094 Free PMC article.

8

Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report.

Li J, Lin S, Wu Q, Feng J, Chen Q, Jiang K. Li J, et al. Medicine (Baltimore). 2023 Dec 8;102(49):e36398. doi: 10.1097/MD.0000000000036398. Medicine (Baltimore). 2023. PMID: 38065855 Free PMC article.

9

Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report.

Lin SZ, Ma QJ, Pang QM, Chen QD, Wang WQ, Li JY, Zhang SL. Lin SZ, et al. World J Clin Cases. 2022 Nov 6;10(31):11486-11492. doi: 10.12998/wjcc.v10.i31.11486. World J Clin Cases. 2022. PMID: 36387827 Free PMC article.

10

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.

Xie H, Lin S, Chen Y, Wang W, Qi Y, Li J, Chen Q, Feng X. Xie H, et al. Among authors: li j. Medicine (Baltimore). 2023 Jun 16;102(24):e33890. doi: 10.1097/MD.0000000000033890. Medicine (Baltimore). 2023. PMID: 37327298 Free PMC article.

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